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CFTR-NGS variants catalogue
Variant hg19:chr7:117201410T/A
| Name | NM_000492.4:c.1584+1701T>A |
| Protein name | NP_000483.3:p.(?) |
| Genomic name (hg19) | chr7:g.117201410T>A UCSC gnomAD |
| #Exon/intron | intron 11 |
| Type in CFTR-NGS catalogue | - |
| Class in CFTR-France | not reported |
| WT sequence | GGCAGCCTTAAAATTATTTTTGAAG T GTACAATTCAGTGTTTTTTTAGCAT |
| Mutant sequence | GGCAGCCTTAAAATTATTTTTGAAG A GTACAATTCAGTGTTTTTTTAGCAT |
| MAF (GnomAD) | 3.90e-02 |
| Splicing prediction (SpliceAI) | AG: 0.00 (-20) AL: 0.00 (0) DG: 0.00 (34) DL: 0.00 (-2) |
 Not found |  Not found | dbSNP no rs |  Not found |  |
| Sanger (present/not present/not verified) |
Minigene (effect/no effect/not performed) |
| not verified | not performed |
No patient found in CFTR-France |
| TOTAL NUMBER OF INDIVIDUALS | 7 |
|---|---|
| Asymptomatic | 3 |
| CFTR-RD | 2
|
| Suspicion of CF | 2 |
| ID | Phenotype | Laboratory | Experiment | Variant status | Variant filter | Quality score | Depth of coverage |
|---|---|---|---|---|---|---|---|
| MUCO07585 | Asymptomatic | Montpellier | 100714_varilh | heterozygous | PASS | 3825 | 381 |
| T2 | Asymptomatic | Montpellier | 160218_varilh | heterozygous | PASS | 5752 | 475 |
| m8582 | Asymptomatic | Montpellier | 150419_Altieri | heterozygous | PASS | 3862 | 219 |
| P2Cr | CFTR-RD | Montpellier | 230414_varilh | heterozygous | PASS | 9746 | 834 |
| 8442 | CFTR-RD | Montpellier | 40216_varilh | heterozygous | PASS | 3721 | 403 |
| 8293 | Suspicion of CF | Montpellier | 40216_varilh | heterozygous | PASS | 4184 | 436 |
| 8 | Suspicion of CF | Montpellier | 150517_varilh | heterozygous | PASS | 5146 | 498 |
